PCR-generated padlock probes distinguish homologous chromosomes through quantitative fluorescence analysis

被引：10

作者：

Antson, DO ^{[1
]}

Mendel-Hartvig, M ^{[1
]}

Landegren, U ^{[1
]}

Nilsson, M ^{[1
]}

机构：

[1] Rudbeck Lab, Dept Genet & Pathol, Beijer Lab, SE-75185 Uppsala, Sweden

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2003年 / 11卷 / 05期

关键词：

padlock probes; ligation; alpha satellite DNA; centromeres; single-nucleoticle polymorphism; genotyping;

D O I：

10.1038/sj.ejhg.5200966

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Conventional cytogenetic techniques can distinguish homologous chromosomes in a qualitative manner based upon obvious morphological features or using in situ hybridization methods that yield qualitative data. We have developed a method for quantitative genotyping of single-nucleotide variants in situ using circularizable DNA probes, so-called padlock probes, targeting two different alpha satellite repeat variants present in human chromosome 7 centromeres, and a single-nucleotide variation in alpha satellite repeats on human chromosome 15 centromeres. By using these PCR-generated padlock probes, we could quantitatively distinguish homologous chromosomes and follow the transmission of the chromosomes by in situ analysis during three consecutive generations.

引用

页码：357 / 363

页数：7

共 26 条

[11] PADLOCK PROBES - CIRCULARIZING OLIGONUCLEOTIDES FOR LOCALIZED DNA DETECTION
NILSSON, M
MALMGREN, H
SAMIOTAKI, M
KWIATKOWSKI, M
CHOWDHARY, BP
LANDEGREN, U
[J]. SCIENCE, 1994, 265 (5181) : 2085 - 2088
[12] Padlock probes reveal single-nucleotide differences, parent of origin and in situ distribution of centromeric sequences in human chromosomes 13 and 21
Nilsson, M
Krejci, K
Koch, J
Kwiatkowski, M
Gustavsson, P
Landegren, U
[J]. NATURE GENETICS, 1997, 16 (03) : 252 - 255
[13] Making ends meet in genetic analysis using padlock probes
Nilsson, M
Banér, J
Mendel-Hartvig, M
Dahl, F
Antson, DO
Gullberg, M
Landegren, U
[J]. HUMAN MUTATION, 2002, 19 (04) : 410 - 415
[14] Alpha satellite DNA variant-specific oligoprobes differing by a single base can distinguish chromosome 15 homologs
O'Keefe, CL
Matera, AG
[J]. GENOME RESEARCH, 2000, 10 (09) : 1342 - 1350
[15] Alphoid variant-specific FISH probes cam distinguish autosomal meiosis I from meiosis II non-disjunction in human sperm
OKeefe, CL
Griffin, DK
Bean, CJ
Matera, AG
Hassold, TJ
[J]. HUMAN GENETICS, 1997, 101 (01) : 61 - 66
[16] Oligonucleotide probes for alpha satellite DNA variants can distinguish homologous chromosomes by FISH
OKeefe, CL
Warburton, PE
Matera, AG
[J]. HUMAN MOLECULAR GENETICS, 1996, 5 (11) : 1793 - 1799
[17] PELLESTOR F, 1994, HUM GENET, V94, P346
[18] PELLESTOR F, 1995, HUM GENET, V95, P12
[19] SHERMAN SL, 1991, AM J HUM GENET, V49, P608
[20] Karyotyping human chromosomes by combinatorial multi-fluor FISH
Speicher, MR
Ballard, SG
Ward, DC
[J]. NATURE GENETICS, 1996, 12 (04) : 368 - 375

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